• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.123-126
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• 2011

Noonan syndrome (NS) is a developmental disorder characterized by dysmorphic facial features in association with short stature, mental retardation and congenital heart disease. NS may be sporadic or inherited as an autosomal dominant or recessive trait. The children with NS usually have ocular hypertelorism, downslanting palpebral fissures, low-set ears and a webbed neck, chest deformity. In addition, oral features include micrognathia, high arched palate, dental malocclusion, dental anomalies and rarely, cleft palate. The phenotype of NS bears similarities to that of Turner syndrome. However, NS occurs in both males and females with a normal sex chromosome 46, XX and 46, XY constitution. This case presents the intermittent treatment of an 8-year-old girl who was referred from a local clinic for the extraction of supernumerary teeth and treatment of dental caries. The focus of this case report is the oral aspects on NS and particularities of the dental treatment in subjects affected by this genetic disease.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.1
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• pp.18-22
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• 2009

A 26-year-old female patient with Down syndrome visited to recieve dental treatment under gnenral anesthesia 6 years ago. The patient had difficulties in oral examination, radiograph taking and laboratory test. The patient had congenital heart disease and medical consultation based on the echocardiography was provided by a cardiologist indicating that the patient could tolearte general anesthesia during dental treatment. And two times of general anesthesia were administered during a dental treament with the interval of 3 years and no postoperpative complicaton was reported. At the third dental operation, the patient had a relatively good condition and her prescreening test revealed no abnormalities. Without further consultation with a cardiologist, general anesthesia was administered to the patient. Anaesthesia was based on thiopental and ventilation of desflurane and $N_2O$ in oxygen via an endotracheal tube with an appropriate monitoring. During the maintenance of anesthesia, the blood pressure of the patient started to drop and the oxygen saturation also began to decrease. Consequently, the proceding operation was discontinued and also inhalation anesthesia was ceased. As the patient was recovered from anesthesia, her systemic conditions were alleviated. After the complete recovery of the patient, she visited the cardiologist, and the cardiologic test revealed her severe right ventricular dilatation. In the anesthesia of patients with congenital heart disease, information on their systemic conditions needs to be undated from the medical consultation, which assures the safety of treatment.

• Journal of the korean academy of Pediatric Dentistry
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• v.39 no.2
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• pp.161-165
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• 2012

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney, brain and musculoskeletal system, and occurs predominantly in males. The patient with Lowe syndrome is characterized with congenital cataracts, glaucoma, prominent forehead, thin and sparse hair, mental and growth retardation, muscular hypotonia, renal dysfunction, and metabolic bone disease. We have experienced a 10-year-old boy with Lowe syndrome who had poor oral hygiene and trouble for teeth brushing. To manage his behavior and systemic metabolic disorder, sedation was performed during dental care. Excessive calculus formation in this patient is caused by both medication and lack of ability to maintain oral hygiene. The dental management of those patients has to be focused on prevention due to difficulties in dental treatment and dangers of general anesthesia for the Lowe syndrome.

• Tuberculosis and Respiratory Diseases
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• v.64 no.5
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• pp.369-373
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• 2008

Tuberous sclerosis (TS) is an autosomal dominant disorder that is characterized by cutaneous lesions, seizures, mental retardation and hamartomas in various organs including the skin, kidney and brain. Pulmonary involvement is extremely rare, and occurs in approximately 0.1 to 1% of TS cases. Recent reports have indicated multiple micronodular pneumocyte hyperplasia (MMPH) as another rare form of pulmonary involvement of tuberous sclerosis. We report a case of a 35 year-old-male patient who had no pulmonary symptoms but showed multinodular pulmonary shadows on his chest CT scan. The patient was finally diagnosed with TS with MMPH of the lung. MMPH does not appear to have any malignant potential but the clinical significance of MMPH in TS patients is unknown.

• BMB Reports
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• v.35 no.2
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• pp.213-219
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• 2002

Malonyl-CoA decarboxylase (E.C.4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA. Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here, we isolated a cDNA clone for malonyl CoA decarboxylase from a rat brain cDNA library, expressed it in E. coli, and characterized its biochemical properties. The full-length cDNA contained a single open-reading frame that encoded 491 amino acid residues with a calculated molecular weight of 54, 762 Da. Its deduced amino acid sequence revealed a 65.6% identity to that from the goose uropigial gland. The sequence of the first 38 amino acids represents a putative mitochondrial targeting sequence, and the last 3 amino acid sequences (SKL) represent peroxisomal targeting ones. The expression of malonyl CoA decarboxylase was observed over a wide range of tissues as a single transcript of 2.0 kb in size. The recombinant protein that was expressed in E. coli was used to characterize the biochemical properties, which showed a typical Michaelis-Menten substrate saturation pattern. The $K_m$ and $V_{max}$ were calculated to be $68\;{\mu}M$ and $42.6\;{\mu}mol/min/mg$, respectively.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.34 no.4
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• pp.485-489
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• 2008

Basal cell nevus syndrome is a hereditary disease of an autosomal dominant trait with variable conditions such as basal cell carcinomas of the skin, deformity of rib, fusion of vertebrae, mental retardation, hypertelorism, and multiple odontogenic keratocysts. A 32 years old man with pus discharge from fistula on the vestibule of left upper 1st molar visited to Chosun University Dental Hospital. Radiographic evaluation revealed multiple maxillary and mandibular cysts that had multilocular radiolucency on left mandibular body area, thining of inferior border of left border of ramus and well defined unilocular radiolucency above right upper 1st and 2nd molar and from left upper 1st premolar to 2nd molar. In chest PA view, he had a forked rib in the left 4th rib and in skull PA view the calcification of falx cerebri was observed. There was not any skin lesion. After the preliminary evaluation, the patient was diagnosed with basal cell nevus syndrome and he underwent marsupialization for decreasing the size of cystic lesion and came to hospital for dressing 3days a week. As time goes by, the size of lesion decreased. So, one and half year after marsupialization, he underwent cyst enucleation and iliac bone graft for the mandibular lesion and buccal fat pad grafts for the maxillary lesions. After the surgery, the patient experienced normal healing without any complications and he is on long-term follow-up.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.26 no.3
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• pp.165-175
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• 2015

Objectives : The purpose of this study was to investigate changes in child and adolescent outpatients at a university hospital in Daegu from 2004 to 2013. Methods : The subjects were first-visit patients under 18 years old, who visited Dongsan Medical Center, Keimyung University, from January 1, 2004 to December 31, 2013. Computerized medical records of 2,738 patients (male 1,906, female 832) were reviewed. Results : The ratio of male to female was 2.3 : 1 in the period of study. The most prevalent age category was 7-9 years. The mean age was $10.12{\pm}4.68$ years ($9.84{\pm}4.59$ years in males, $10.76{\pm}4.81$ years in females). The ratio of child and adolescent patients to total outpatients was 27.0%. The most common diagnostic category was the attention-deficit hyperactivity disorder (ADHD) group, followed by the mental retardation (MR) group. In males, the ADHD, MR, communication disorder groups were more prevalent, but in females, the MR, ADHD, depressive disorder groups were more prevalent. Conclusion : The female to male ratio and total mean age were on the rise. The ADHD group was the most prevalent and the depressive disorder group was also on the rise in this period.

• Journal of the korean academy of Pediatric Dentistry
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• v.46 no.4
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• pp.416-421
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• 2019

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disorder; affected patients are characterized by inability to feel pain and to sweat over the entire body, as well as by mental retardation. Because, in the oral examination, no specific findings on soft or hard tissue may be found except possible lesions due to self-mutilation, early recognition and diagnosis are essential for these patients. Pediatric dentists must be aware of the clinical manifestations and treatment considerations related to uncontrolled body temperature, tactile hyperesthesia and lack of pain reflex. In this case report, dental management of CIPA was suggested by presenting a 6-year follow-up of young patient.

• Journal of Korean Neurosurgical Society
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• v.29 no.4
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• pp.564-568
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• 2000

The authors present a rare case of subependymal giant cell astrocytoma which successfully treated with endoscopic tumor resection. A 15-year-old boy was presented with multiple episode of generalized seizure and intermittent headache for 5 years. The patient had facial adenoma sebaceum, multiple nevi on his back, and mental retardation. Cerebral MRI scans showed a round tumor located at the frontal horn of right ventricle near the foramen monro. The tumor was totally removed with endoscopic procedure and histologically confirmed as a subependymal giant cell astrocytoma. Subependymal giant cell astrocytomas can cause all the clinical problems that are associated with other types of intracranial tumor. However, surgical indication is not well standardized, because of the lack of basic knowledge about the tumor and the likelihood of surgical morbidity. We believe that endoscopic surgery, a minimally invasive technique, can circumvent the surgical disadvantage while achieving the surgical goal.

• Genomics & Informatics
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• v.20 no.3
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.